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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for MAF1 |
 Gene summary |
| Gene information | Gene symbol | MAF1 | Gene ID | 84232 |
| Gene name | MAF1 homolog, negative regulator of RNA polymerase III | |
| Synonyms | - | |
| Cytomap | 8q24.3 | |
| Type of gene | protein-coding | |
| Description | repressor of RNA polymerase III transcription MAF1 homologMAF1 negative regulator of RNA polymerase IIIhomolog of yeast MAF1 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 26934328(Stress Resistance and Lifespan Are Increased in C. Elegans but Decreased in S. Cerevisiae by mafr-1/maf1 Deletion) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| MAF1 | GO:0016479 | negative regulation of transcription by RNA polymerase I | 17499043 |
| MAF1 | GO:0016480 | negative regulation of transcription by RNA polymerase III | 17499043|18377933|20233713 |
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Gene structures and expression levels for MAF1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000179632
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PCC | UP | ENST00000532522.5 | MAF1-204:protein_coding:MAF1 | 1.106609e+01 | 1.534443e+00 | 3.250860e-04 | 1.253123e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MAF1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_110229 | chr8 | 144106601:144106674:144106835:144106963:144107088:144107217 | 144106835:144106963 |
| exon_skip_272049 | chr8 | 144106343:144106464:144106555:144106674:144106835:144106881 | 144106555:144106674 |
| exon_skip_56280 | chr8 | 144105869:144105997:144106076:144106241:144106343:144106464 | 144106076:144106241 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for MAF1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000322428 | 144106076 | 144106241 | Frame-shift |
| ENST00000532522 | 144106076 | 144106241 | Frame-shift |
| ENST00000322428 | 144106835 | 144106963 | In-frame |
| ENST00000532522 | 144106835 | 144106963 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000322428 | 144106076 | 144106241 | Frame-shift |
| ENST00000532522 | 144106076 | 144106241 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000322428 | 144106076 | 144106241 | Frame-shift |
| ENST00000532522 | 144106076 | 144106241 | Frame-shift |
| ENST00000322428 | 144106555 | 144106674 | In-frame |
| ENST00000532522 | 144106555 | 144106674 | In-frame |
| ENST00000322428 | 144106835 | 144106963 | In-frame |
| ENST00000532522 | 144106835 | 144106963 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAF1 |
p-ENSG00000179632_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000322428 | 1694 | 256 | 144106835 | 144106963 | 1026 | 1153 | 207 | 249 |
| ENST00000532522 | 1115 | 256 | 144106835 | 144106963 | 841 | 968 | 207 | 249 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000322428 | 1694 | 256 | 144106555 | 144106674 | 906 | 1024 | 167 | 206 |
| ENST00000532522 | 1115 | 256 | 144106555 | 144106674 | 721 | 839 | 167 | 206 |
| ENST00000322428 | 1694 | 256 | 144106835 | 144106963 | 1026 | 1153 | 207 | 249 |
| ENST00000532522 | 1115 | 256 | 144106835 | 144106963 | 841 | 968 | 207 | 249 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9H063 | 207 | 249 | 1 | 256 | Chain | ID=PRO_0000213973;Note=Repressor of RNA polymerase III transcription MAF1 homolog |
| Q9H063 | 207 | 249 | 1 | 256 | Chain | ID=PRO_0000213973;Note=Repressor of RNA polymerase III transcription MAF1 homolog |
| Q9H063 | 207 | 249 | 212 | 212 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20516213;Dbxref=PMID:20516213 |
| Q9H063 | 207 | 249 | 212 | 212 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20516213;Dbxref=PMID:20516213 |
| Q9H063 | 207 | 249 | 214 | 214 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:20516213;Dbxref=PMID:23186163,PMID:20516213 |
| Q9H063 | 207 | 249 | 214 | 214 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:20516213;Dbxref=PMID:23186163,PMID:20516213 |
| Q9H063 | 207 | 249 | 236 | 236 | Natural variant | ID=VAR_060408;Note=G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11230166,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.2,ECO:0000269|Ref.4;Dbxref=dbSNP:rs11546144,PMID:11230166,PMID:15489334 |
| Q9H063 | 207 | 249 | 236 | 236 | Natural variant | ID=VAR_060408;Note=G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11230166,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.2,ECO:0000269|Ref.4;Dbxref=dbSNP:rs11546144,PMID:11230166,PMID:15489334 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q9H063 | 167 | 206 | 164 | 168 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NR5 |
| Q9H063 | 167 | 206 | 164 | 168 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NR5 |
| Q9H063 | 167 | 206 | 183 | 192 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NR5 |
| Q9H063 | 167 | 206 | 183 | 192 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NR5 |
| Q9H063 | 167 | 206 | 197 | 205 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NR5 |
| Q9H063 | 167 | 206 | 197 | 205 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NR5 |
| Q9H063 | 167 | 206 | 1 | 256 | Chain | ID=PRO_0000213973;Note=Repressor of RNA polymerase III transcription MAF1 homolog |
| Q9H063 | 167 | 206 | 1 | 256 | Chain | ID=PRO_0000213973;Note=Repressor of RNA polymerase III transcription MAF1 homolog |
| Q9H063 | 167 | 206 | 172 | 174 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NR5 |
| Q9H063 | 167 | 206 | 172 | 174 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NR5 |
| Q9H063 | 167 | 206 | 193 | 196 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NR5 |
| Q9H063 | 167 | 206 | 193 | 196 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3NR5 |
| Q9H063 | 207 | 249 | 1 | 256 | Chain | ID=PRO_0000213973;Note=Repressor of RNA polymerase III transcription MAF1 homolog |
| Q9H063 | 207 | 249 | 1 | 256 | Chain | ID=PRO_0000213973;Note=Repressor of RNA polymerase III transcription MAF1 homolog |
| Q9H063 | 207 | 249 | 212 | 212 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20516213;Dbxref=PMID:20516213 |
| Q9H063 | 207 | 249 | 212 | 212 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20516213;Dbxref=PMID:20516213 |
| Q9H063 | 207 | 249 | 214 | 214 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:20516213;Dbxref=PMID:23186163,PMID:20516213 |
| Q9H063 | 207 | 249 | 214 | 214 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PubMed:23186163,ECO:0000269|PubMed:20516213;Dbxref=PMID:23186163,PMID:20516213 |
| Q9H063 | 207 | 249 | 236 | 236 | Natural variant | ID=VAR_060408;Note=G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11230166,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.2,ECO:0000269|Ref.4;Dbxref=dbSNP:rs11546144,PMID:11230166,PMID:15489334 |
| Q9H063 | 207 | 249 | 236 | 236 | Natural variant | ID=VAR_060408;Note=G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11230166,ECO:0000269|PubMed:15489334,ECO:0000269|Ref.2,ECO:0000269|Ref.4;Dbxref=dbSNP:rs11546144,PMID:11230166,PMID:15489334 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MAF1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for MAF1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for MAF1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAF1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for MAF1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for MAF1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MAF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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